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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826827753
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171229
ClinVar RCV Id:
RCV001524179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280124.1:p.Cys37Phe
CA340136940
NM_001293195.2:c.110G>T